ClinVar Miner

List of variants in gene combination ELP4, PAX6 reported as benign for aniridia 1

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_019040.5(ELP4):c.*3208C>T rs608293 0.88020
NM_019040.5(ELP4):c.*3514_*3517dup rs397795797 0.87931
NM_019040.5(ELP4):c.*5226T>A rs1506 0.72043
NM_019040.5(ELP4):c.*2452C>T rs3026401 0.70691
NM_019040.5(ELP4):c.*4250C>T rs12421026 0.42881
NM_019040.5(ELP4):c.*3703G>A rs3026398 0.22983
NM_019040.5(ELP4):c.*3998C>T rs662702 0.14929
NM_019040.5(ELP4):c.*2114C>G rs16922475 0.05615
NM_019040.5(ELP4):c.*3509A>G rs542906080 0.04927
NM_019040.5(ELP4):c.*2673_*2674del rs141022497 0.02792
NM_019040.5(ELP4):c.*4105C>T rs73477656 0.02650
NM_001368894.2(PAX6):c.*842G>A rs115045926 0.01172
NM_019040.5(ELP4):c.*3851C>T rs141344418 0.00935
NM_019040.5(ELP4):c.*3994C>A rs79739975 0.00857
NM_001368894.2(PAX6):c.*417C>T rs55756603 0.00810
NM_019040.5(ELP4):c.*4172A>C rs73477658 0.00701
NM_019040.5(ELP4):c.*2740G>A rs149777109 0.00394
NM_019040.5(ELP4):c.*3242G>A rs187705792 0.00303
NM_019040.5(ELP4):c.*5347T>C rs117590302 0.00220
NM_019040.5(ELP4):c.*3904G>A rs3026397 0.00189
NM_001368894.2(PAX6):c.*891G>A rs530259403 0.00065
NM_019040.5(ELP4):c.*3528A>G rs143185259 0.00060
NM_001368894.2(PAX6):c.*841C>T rs530931929 0.00031
NM_019040.5(ELP4):c.*1783T>G rs140971065 0.00030
NM_001368894.2(PAX6):c.1236C>T (p.Ser412=) rs78290542 0.00011
NM_019040.5(ELP4):c.*3092T>C rs371438311 0.00006
NM_019040.5(ELP4):c.*2664G>A rs567720234 0.00005
NM_019040.5(ELP4):c.*1714C>G rs180780893 0.00002
NM_019040.5(ELP4):c.*3164_*3165insAAAA rs34919147

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